Primary Jaw Tumors in Children.
ABSTRACT PURPOSE: To document tumor type, biological/clinical behavior, management, and outcomes in children with primary jaw tumors. MATERIALS AND METHODS: A retrospective analysis of children with primary benign jaw tumors evaluated at Massachusetts General Hospital and Children's Hospital Boston from 1991 to 2009 was conducted. Patients were included if they were aged 16 years or younger and had adequate records and follow-up. Patient charts, radiographs, and pathology reports were reviewed. Demographic data; clinical, radiographic, and histopathologic findings; treatment; and outcomes were recorded. Predictor variables were tumor type, clinical behavior (nonaggressive/aggressive), and treatment. Outcome variables included presence or absence of recurrence and complications. Descriptive statistics were computed. RESULTS: There were 102 patients (44 male and 58 female patients) with a mean age of 8.3 years (range, 6 months to 16 years). Tumors were grouped by tumor type: mesenchymal (n = 96), neurogenic (n = 5), vascular (n = 5), or hematopoietic (n = 3); in addition, when appropriate, they were classified as nonaggressive (n = 54) or aggressive (n = 27). Treatment was based on the tumor's clinical/biological behavior and radiographic features and whether it was solitary or multifocal. Patients with nonaggressive tumors were treated by enucleation, debulking/contouring, or observation, and the recurrence rate was 0%. Aggressive tumors underwent en bloc resection or enucleation with systemic adjuvant therapy, and the recurrence rate was 7.1%. Mean follow-up was 2.4 years. CONCLUSIONS: The results of this study indicate that primary jaw tumors in children exhibit variable biological/clinical behavior, often not predicted by descriptive histologic findings. Management of these tumors should therefore be guided by clinical/biological behavior.
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ABSTRACT: To evaluate the diagnostic value of MDM2 status in craniofacial fibro-osseous lesions, we investigated MDM2 expression by immunohistochemistry and analyzed MDM2 amplification by qPCR in 30 cases of ossifying fibroma (including 13 cases of the juvenile variant) and 17 cases of fibrous dysplasia. Two cases of uncommon extragnathic psammomatoid fibrous dysplasia and a mixed control group of 15 cases of low-grade osteosarcoma and 15 cases of well-differentiated/dedifferentiated liposarcoma were included. MDM2 amplification was found in 33% of ossifying fibromas (peak of 69% for the juvenile variant) and in 12% of fibrous dysplasia, in none of which was MDM2 overexpressed. All control cases exhibited MDM2 amplification and overexpression. To investigate possible polysomy of chromosome 12, we studied RASAL1 amplification, a gene telomeric to MDM2 on the long arm of chromosome 12. RASAL1 amplification was reported in all benign fibro-osseous lesions exhibiting MDM2 amplification but not in controls. Simultaneous amplification of these two genes was significantly higher in juvenile ossifying fibromas compared with fibrous dysplasia (P=0.004), non-juvenile ossifying fibromas (P=0.001), and all other benign craniofacial fibro-osseous lesions combined (P=0.0001). Of the nine cases of juvenile ossifying fibroma exhibiting amplification, three were locally invasive and four were recurrent, suggesting aggressive disease. The two cases of extragnathic psammomatoid fibrous dysplasia also showed MDM2 and RASAL1 amplification with no MDM2 overexpression. This large chromosome 12 rearrangement, spanning MDM2 and RASAL1, is the first recurrent molecular abnormality to be reported in juvenile ossifying fibroma. It may represent both a molecular diagnostic marker and a characteristic of more aggressive forms with a higher risk of recurrence. Finally, the presence of this rearrangement in extragnathic psammomatoid fibro-osseous lesions mimicking ossifying fibromas might reflect a common molecular pathway in their pathogenesis and calls into question the classification of such lesions within fibrous dysplasia.Modern Pathology 06/2014; · 5.25 Impact Factor